ID   MNDINSi001-A
AC   CVCL_A9YK
SY   hiPSC-ins8
DR   Wikidata; Q102114546
RX   PubMed=32739878;
CC   From: Endocrinology Research Centre; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6081; INS; Simple; c.188-31G>A; ClinVar=VCV000211186; Zygosity=Heterozygous (PubMed=32739878).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114902; Permanent neonatal diabetes mellitus
DI   ORDO; Orphanet_99885; Permanent neonatal diabetes mellitus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=32739878; DOI=10.1016/j.scr.2020.101929;
RA   Panova A.V., Klementieva N.V., Sycheva A.V., Goliusova D.V.,
RA   Khokhlov N.V., Zubkova N.A., Tiulpakov A.N., Kiselev S.L.;
RT   "Generation of an induced pluripotent stem cell line MNDINSi001-A from
RT   a patient with neonatal diabetes caused by a heterozygous INS
RT   mutation.";
RL   Stem Cell Res. 47:101929-101929(2020).
//